Mutagenetix > Incidental Mutation

Incidental Mutation 'R6541:Sh2d4b'

520790

Institutional Source

Beutler Lab

Gene Symbol

Sh2d4b

Ensembl Gene

ENSMUSG00000037833

Gene Name

SH2 domain containing 4B

Synonyms

A430109M18Rik

MMRRC Submission

044667-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R6541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40535746-40615223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40542748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 343 (T343A)

Ref Sequence

ENSEMBL: ENSMUSP00000093699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070328] [ENSMUST00000096000]

AlphaFold

A6X942

Predicted Effect

probably benign
Transcript: ENSMUST00000070328
AA Change: T90A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064708
Gene: ENSMUSG00000037833
AA Change: T90A

Domain	Start	End	E-Value	Type
SH2	70	153	4.87e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096000
AA Change: T343A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093699
Gene: ENSMUSG00000037833
AA Change: T343A

Domain	Start	End	E-Value	Type
low complexity region	32	43	N/A	INTRINSIC
coiled coil region	149	234	N/A	INTRINSIC
SH2	323	406	4.87e-22	SMART

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ass1	T	C	2: 31,400,245 (GRCm39)	V321A	probably damaging	Het
BC028528	T	A	3: 95,795,530 (GRCm39)	M91L	probably benign	Het
Bicra	T	C	7: 15,713,054 (GRCm39)	T998A	probably benign	Het
Cdkl3	T	G	11: 51,913,571 (GRCm39)	L220R	probably damaging	Het
Cluh	A	G	11: 74,548,040 (GRCm39)	D117G	probably damaging	Het
Cplane1	T	C	15: 8,248,779 (GRCm39)	V1776A	possibly damaging	Het
Crygf	T	C	1: 65,967,224 (GRCm39)	F116S	probably damaging	Het
Ergic2	T	A	6: 148,084,648 (GRCm39)	Y20F	probably damaging	Het
Esf1	A	G	2: 140,009,799 (GRCm39)	V179A	probably benign	Het
Gm28360	T	C	1: 117,758,047 (GRCm39)		probably benign	Het
Hhatl	C	T	9: 121,614,210 (GRCm39)	V385I	probably damaging	Het
Iba57	A	T	11: 59,049,689 (GRCm39)	D219E	possibly damaging	Het
Il36b	T	A	2: 24,049,827 (GRCm39)	V146D	probably damaging	Het
Itgal	T	A	7: 126,910,734 (GRCm39)	V176E	probably damaging	Het
Kdm3a	T	C	6: 71,571,517 (GRCm39)	M1060V	possibly damaging	Het
Kif18b	T	C	11: 102,805,092 (GRCm39)	K351R	probably damaging	Het
Mroh9	A	G	1: 162,885,607 (GRCm39)	F342L	possibly damaging	Het
Ndufa11	T	A	17: 57,024,867 (GRCm39)	S10T	probably benign	Het
Or2bd2	A	T	7: 6,443,492 (GRCm39)	N198Y	probably benign	Het
Or5w19	T	C	2: 87,698,638 (GRCm39)	F101S	probably benign	Het
Or6b6	A	T	7: 106,571,410 (GRCm39)	F47Y	probably benign	Het
Or7h8	T	A	9: 20,123,695 (GRCm39)	F17I	probably benign	Het
Pacsin3	A	G	2: 91,093,129 (GRCm39)	E207G	probably damaging	Het
Pcsk1	T	A	13: 75,274,103 (GRCm39)	L136Q	probably damaging	Het
Prr18	G	T	17: 8,560,168 (GRCm39)	R108L	possibly damaging	Het
Rdh5	A	G	10: 128,753,977 (GRCm39)	V44A	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Slc16a10	T	C	10: 39,913,268 (GRCm39)	N480S	probably benign	Het
Spaca7b	T	A	8: 11,712,613 (GRCm39)	Q79L	probably benign	Het
Sval3	A	T	6: 41,949,380 (GRCm39)	N73Y	probably damaging	Het
Taar7d	T	C	10: 23,904,129 (GRCm39)	I337T	probably benign	Het
Ttn	T	A	2: 76,577,039 (GRCm39)	Q24618L	possibly damaging	Het
Ugt1a9	T	A	1: 87,999,318 (GRCm39)	V256E	probably damaging	Het
Vmn2r108	T	A	17: 20,701,480 (GRCm39)	I7F	probably benign	Het
Vmn2r55	A	G	7: 12,404,939 (GRCm39)	S155P	probably damaging	Het
Vwa3b	T	A	1: 37,090,842 (GRCm39)	V169E	probably damaging	Het

Other mutations in Sh2d4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Sh2d4b	APN	14	40,594,490 (GRCm39)	missense	probably benign	0.00
IGL01552:Sh2d4b	APN	14	40,582,605 (GRCm39)	missense	probably benign
IGL02556:Sh2d4b	APN	14	40,542,700 (GRCm39)	missense	probably benign	0.00
R0961:Sh2d4b	UTSW	14	40,596,139 (GRCm39)	missense	probably benign	0.07
R1573:Sh2d4b	UTSW	14	40,564,329 (GRCm39)	critical splice donor site	probably null
R1672:Sh2d4b	UTSW	14	40,614,921 (GRCm39)	start codon destroyed	probably null	1.00
R2360:Sh2d4b	UTSW	14	40,582,548 (GRCm39)	critical splice donor site	probably null
R3951:Sh2d4b	UTSW	14	40,594,503 (GRCm39)	missense	probably damaging	0.98
R4728:Sh2d4b	UTSW	14	40,564,389 (GRCm39)	nonsense	probably null
R4824:Sh2d4b	UTSW	14	40,562,301 (GRCm39)	missense	probably benign	0.01
R6222:Sh2d4b	UTSW	14	40,542,694 (GRCm39)	missense	probably damaging	1.00
R6497:Sh2d4b	UTSW	14	40,596,139 (GRCm39)	missense	probably benign	0.07
R7136:Sh2d4b	UTSW	14	40,562,209 (GRCm39)	missense	probably benign	0.08
R7864:Sh2d4b	UTSW	14	40,562,208 (GRCm39)	missense	probably damaging	0.98
R7947:Sh2d4b	UTSW	14	40,542,723 (GRCm39)	missense	probably damaging	1.00
R8843:Sh2d4b	UTSW	14	40,614,832 (GRCm39)	missense	probably benign	0.15
R8886:Sh2d4b	UTSW	14	40,595,946 (GRCm39)	intron	probably benign
R9292:Sh2d4b	UTSW	14	40,537,914 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTTCAACCAAAGTTCCTGCC -3'
(R):5'- TTCGTCTGTGAAATGAGCCAG -3'

Sequencing Primer
(F):5'- CCCTTCAAAGAGAGTTACCTTGTGG -3'
(R):5'- TCTGTGAAATGAGCCAGATAGAAAG -3'

Posted On

2018-06-06